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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:glycerol kinase deficiency
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Accession:DOID:0060363 term browser browse the term
Definition:An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21. (DO)
Synonyms:exact_synonym: DEFICIENCY OF GLYCEROL KINASE;   GK deficiency;   GK1 deficiency;   GKD;   hyperglycerolemia
 primary_id: OMIM:307030
 xref: NCI:C124845;   ORDO:408
For additional species annotation, visit the Alliance of Genome Resources.



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glycerol kinase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gk glycerol kinase ISO DNA:deletion
ClinVar Annotator: match by term: Deficiency of glycerol kinase
OMIM
ClinVar
RGD
PMID:8651297 PMID:9719371 PMID:10736265 PMID:10737976 PMID:25741868 More... RGD:1601343 NCBI chr  X:50,162,089...50,238,707
Ensembl chr  X:50,163,123...50,238,631
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    Nutritional and Metabolic Diseases 6763
      disease of metabolism 6763
        inherited metabolic disorder 4671
          carbohydrate metabolic disorder 2562
            glycerol kinase deficiency 1
Path 2
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        genetic disease 11118
          inherited metabolic disorder 4671
            carbohydrate metabolic disorder 2562
              glycerol kinase deficiency 1
paths to the root